| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6291188A= | CA1435768560 | WFS1 | c.461-9A= (n.461-9A=) c.451-9A= c.212-9A= (n.212-9A=) c.260-9A= (n.260-9A=) c.335-9A= (n.335-9A=) c.58-9A= n.646-9A= c.470-9A= (n.470-9A=) | |
| 4 | g.6291188A>C | CA2580581746 | WFS1 | c.461-9A>C (n.461-9A>C) c.451-9A>C c.212-9A>C (n.212-9A>C) c.260-9A>C (n.260-9A>C) c.335-9A>C (n.335-9A>C) c.58-9A>C n.646-9A>C c.470-9A>C (n.470-9A>C) | |
| 4 | g.6291188A>G | CA116905 | WFS1 | c.461-9A>G (n.461-9A>G) c.451-9A>G c.212-9A>G (n.212-9A>G) c.260-9A>G (n.260-9A>G) c.335-9A>G (n.335-9A>G) c.58-9A>G n.646-9A>G c.470-9A>G (n.470-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291188A>T | CA2580581747 | WFS1 | c.461-9A>T (n.461-9A>T) c.451-9A>T c.212-9A>T (n.212-9A>T) c.260-9A>T (n.260-9A>T) c.335-9A>T (n.335-9A>T) c.58-9A>T n.646-9A>T c.470-9A>T (n.470-9A>T) | gnomAD v4 |
| 4 | g.6291190C>A | CA2669825840 | WFS1 | c.461-7C>A (n.461-7C>A) c.451-7C>A c.212-7C>A (n.212-7C>A) c.260-7C>A (n.260-7C>A) c.335-7C>A (n.335-7C>A) c.58-7C>A n.646-7C>A c.470-7C>A (n.470-7C>A) | gnomAD v4 |
| 4 | g.6291190C>T | CA2573138317 | WFS1 | c.461-7C>T (n.461-7C>T) c.451-7C>T c.212-7C>T (n.212-7C>T) c.260-7C>T (n.260-7C>T) c.335-7C>T (n.335-7C>T) c.58-7C>T n.646-7C>T c.470-7C>T (n.470-7C>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6291191C>A | CA2580071766 | WFS1 | c.461-6C>A (n.461-6C>A) c.451-6C>A c.212-6C>A (n.212-6C>A) c.260-6C>A (n.260-6C>A) c.335-6C>A (n.335-6C>A) c.58-6C>A n.646-6C>A c.470-6C>A (n.470-6C>A) | ClinVar |
| 4 | g.6291191C>T | CA2669825841 | WFS1 | c.461-6C>T (n.461-6C>T) c.451-6C>T c.212-6C>T (n.212-6C>T) c.260-6C>T (n.260-6C>T) c.335-6C>T (n.335-6C>T) c.58-6C>T n.646-6C>T c.470-6C>T (n.470-6C>T) | gnomAD v4 |
| 4 | g.6291192C= | CA1435768561 | WFS1 | c.461-5C= (n.461-5C=) c.451-5C= c.212-5C= (n.212-5C=) c.260-5C= (n.260-5C=) c.335-5C= (n.335-5C=) c.58-5C= n.646-5C= c.470-5C= (n.470-5C=) | |
| 4 | g.6291192C>T | CA549707974 | WFS1 | c.461-5C>T (n.461-5C>T) c.451-5C>T c.212-5C>T (n.212-5C>T) c.260-5C>T (n.260-5C>T) c.335-5C>T (n.335-5C>T) c.58-5C>T n.646-5C>T c.470-5C>T (n.470-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291193T>C | CA2669825842 | WFS1 | c.461-4T>C (n.461-4T>C) c.451-4T>C c.212-4T>C (n.212-4T>C) c.260-4T>C (n.260-4T>C) c.335-4T>C (n.335-4T>C) c.58-4T>C n.646-4T>C c.470-4T>C (n.470-4T>C) | gnomAD v4 |
| 4 | g.6291194C>A | CA2669825843 | WFS1 | c.461-3C>A (n.461-3C>A) c.451-3C>A c.212-3C>A (n.212-3C>A) c.260-3C>A (n.260-3C>A) c.335-3C>A (n.335-3C>A) c.58-3C>A n.646-3C>A c.470-3C>A (n.470-3C>A) | gnomAD v4 |
| 4 | g.6291194C= | CA1435768562 | WFS1 | c.461-3C= (n.461-3C=) c.451-3C= c.212-3C= (n.212-3C=) c.260-3C= (n.260-3C=) c.335-3C= (n.335-3C=) c.58-3C= n.646-3C= c.470-3C= (n.470-3C=) | |
| 4 | g.6291194C>G | CA2838909 | WFS1 | c.461-3C>G (n.461-3C>G) c.451-3C>G c.212-3C>G (n.212-3C>G) c.260-3C>G (n.260-3C>G) c.335-3C>G (n.335-3C>G) c.58-3C>G n.646-3C>G c.470-3C>G (n.470-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6291194C>T | CA1435768563 | WFS1 | c.461-3C>T (n.461-3C>T) c.451-3C>T c.212-3C>T (n.212-3C>T) c.260-3C>T (n.260-3C>T) c.335-3C>T (n.335-3C>T) c.58-3C>T n.646-3C>T c.470-3C>T (n.470-3C>T) | dbSNP |
| 4 | g.6291195A>C | CA356171825 | WFS1 | c.461-2A>C (n.461-2A>C) c.451-2A>C c.212-2A>C (n.212-2A>C) c.260-2A>C (n.260-2A>C) c.335-2A>C (n.335-2A>C) c.58-2A>C n.646-2A>C c.470-2A>C (n.470-2A>C) | gnomAD v4 |
| 4 | g.6291195A>G | CA356171824 | WFS1 | c.461-2A>G (n.461-2A>G) c.451-2A>G c.212-2A>G (n.212-2A>G) c.260-2A>G (n.260-2A>G) c.335-2A>G (n.335-2A>G) c.58-2A>G n.646-2A>G c.470-2A>G (n.470-2A>G) | |
| 4 | g.6291195A>T | CA356171823 | WFS1 | c.461-2A>T (n.461-2A>T) c.451-2A>T c.212-2A>T (n.212-2A>T) c.260-2A>T (n.260-2A>T) c.335-2A>T (n.335-2A>T) c.58-2A>T n.646-2A>T c.470-2A>T (n.470-2A>T) | |
| 4 | g.6291196G>A | CA356171826 | WFS1 | c.461-1G>A (n.461-1G>A) c.451-1G>A c.212-1G>A (n.212-1G>A) c.260-1G>A (n.260-1G>A) c.335-1G>A (n.335-1G>A) c.58-1G>A n.646-1G>A c.470-1G>A (n.470-1G>A) | |
| 4 | g.6291196G>C | CA356171827 | WFS1 | c.461-1G>C (n.461-1G>C) c.451-1G>C c.212-1G>C (n.212-1G>C) c.260-1G>C (n.260-1G>C) c.335-1G>C (n.335-1G>C) c.58-1G>C n.646-1G>C c.470-1G>C (n.470-1G>C) | |
| 4 | g.6291196G= | CA1435768564 | WFS1 | c.461-1G= (n.461-1G=) c.451-1G= c.212-1G= (n.212-1G=) c.260-1G= (n.260-1G=) c.335-1G= (n.335-1G=) c.58-1G= n.646-1G= c.470-1G= (n.470-1G=) | |
| 4 | g.6291196G>T | CA356171828 | WFS1 | c.461-1G>T (n.461-1G>T) c.451-1G>T c.212-1G>T (n.212-1G>T) c.260-1G>T (n.260-1G>T) c.335-1G>T (n.335-1G>T) c.58-1G>T n.646-1G>T c.470-1G>T (n.470-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6291197G>A | CA356171829 | WFS1 | c.461G>A (p.Gly154Asp) c.451G>A c.212G>A (p.Gly71Asp) c.260G>A (p.Gly87Asp) c.335G>A (p.Gly112Asp) c.58G>A n.646G>A c.470G>A (p.Gly157Asp) | |
| 4 | g.6291197G>C | CA91794571 | WFS1 | c.461G>C (p.Gly154Ala) c.451G>C c.212G>C (p.Gly71Ala) c.260G>C (p.Gly87Ala) c.335G>C (p.Gly112Ala) c.58G>C n.646G>C c.470G>C (p.Gly157Ala) | dbSNP |
| 4 | g.6291197G= | CA1435768565 | WFS1 | c.461G= (p.Gly154=) c.451G= c.212G= (p.Gly71=) c.260G= (p.Gly87=) c.335G= (p.Gly112=) c.58G= n.646G= c.470G= (p.Gly157=) | |
| 4 | g.6291197G>T | CA356171830 | WFS1 | c.461G>T (p.Gly154Val) c.451G>T c.212G>T (p.Gly71Val) c.260G>T (p.Gly87Val) c.335G>T (p.Gly112Val) c.58G>T n.646G>T c.470G>T (p.Gly157Val) | gnomAD v4 |
| 4 | g.6291198C>A | CA438210926 | WFS1 | c.462C>A (p.Gly154=) c.452C>A c.213C>A (p.Gly71=) c.261C>A (p.Gly87=) c.336C>A (p.Gly112=) c.59C>A n.647C>A c.471C>A (p.Gly157=) | |
| 4 | g.6291198C>G | CA438210927 | WFS1 | c.462C>G (p.Gly154=) c.452C>G c.213C>G (p.Gly71=) c.261C>G (p.Gly87=) c.336C>G (p.Gly112=) c.59C>G n.647C>G c.471C>G (p.Gly157=) | |
| 4 | g.6291198C>T | CA438210928 | WFS1 | c.462C>T (p.Gly154=) c.452C>T c.213C>T (p.Gly71=) c.261C>T (p.Gly87=) c.336C>T (p.Gly112=) c.59C>T n.647C>T c.471C>T (p.Gly157=) | |
| 4 | g.6291199A>C | CA356171831 | WFS1 | c.463A>C (p.Ile155Leu) c.453A>C c.214A>C (p.Ile72Leu) c.262A>C (p.Ile88Leu) c.337A>C (p.Ile113Leu) c.60A>C n.648A>C c.472A>C (p.Ile158Leu) | |
| 4 | g.6291199A>G | CA356171832 | WFS1 | c.463A>G (p.Ile155Val) c.453A>G c.214A>G (p.Ile72Val) c.262A>G (p.Ile88Val) c.337A>G (p.Ile113Val) c.60A>G n.648A>G c.472A>G (p.Ile158Val) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6291199A>T | CA356171833 | WFS1 | c.463A>T (p.Ile155Phe) c.453A>T c.214A>T (p.Ile72Phe) c.262A>T (p.Ile88Phe) c.337A>T (p.Ile113Phe) c.60A>T n.648A>T c.472A>T (p.Ile158Phe) | |
| 4 | g.6291200T>A | CA356171834 | WFS1 | c.464T>A (p.Ile155Asn) c.454T>A c.215T>A (p.Ile72Asn) c.263T>A (p.Ile88Asn) c.338T>A (p.Ile113Asn) c.61T>A n.649T>A c.473T>A (p.Ile158Asn) | |
| 4 | g.6291200T>C | CA356171835 | WFS1 | c.464T>C (p.Ile155Thr) c.454T>C c.215T>C (p.Ile72Thr) c.263T>C (p.Ile88Thr) c.338T>C (p.Ile113Thr) c.61T>C n.649T>C c.473T>C (p.Ile158Thr) | |
| 4 | g.6291200T>G | CA356171836 | WFS1 | c.464T>G (p.Ile155Ser) c.454T>G c.215T>G (p.Ile72Ser) c.263T>G (p.Ile88Ser) c.338T>G (p.Ile113Ser) c.61T>G n.649T>G c.473T>G (p.Ile158Ser) | |
| 4 | g.6291201C>A | CA438210929 | WFS1 | c.465C>A (p.Ile155=) c.455C>A c.216C>A (p.Ile72=) c.264C>A (p.Ile88=) c.339C>A (p.Ile113=) c.62C>A n.650C>A c.474C>A (p.Ile158=) | |
| 4 | g.6291201C>G | CA356171837 | WFS1 | c.465C>G (p.Ile155Met) c.455C>G c.216C>G (p.Ile72Met) c.264C>G (p.Ile88Met) c.339C>G (p.Ile113Met) c.62C>G n.650C>G c.474C>G (p.Ile158Met) | |
| 4 | g.6291201C>T | CA438210930 | WFS1 | c.465C>T (p.Ile155=) c.455C>T c.216C>T (p.Ile72=) c.264C>T (p.Ile88=) c.339C>T (p.Ile113=) c.62C>T n.650C>T c.474C>T (p.Ile158=) | |
| 4 | g.6291202A>C | CA356171839 | WFS1 | c.466A>C (p.Thr156Pro) c.456A>C c.217A>C (p.Thr73Pro) c.265A>C (p.Thr89Pro) c.340A>C (p.Thr114Pro) c.63A>C n.651A>C c.475A>C (p.Thr159Pro) | |
| 4 | g.6291202A>G | CA356171840 | WFS1 | c.466A>G (p.Thr156Ala) c.456A>G c.217A>G (p.Thr73Ala) c.265A>G (p.Thr89Ala) c.340A>G (p.Thr114Ala) c.63A>G n.651A>G c.475A>G (p.Thr159Ala) | gnomAD v4 |
| 4 | g.6291202A>T | CA356171838 | WFS1 | c.466A>T (p.Thr156Ser) c.456A>T c.217A>T (p.Thr73Ser) c.265A>T (p.Thr89Ser) c.340A>T (p.Thr114Ser) c.63A>T n.651A>T c.475A>T (p.Thr159Ser) | |
| 4 | g.6291203C>A | CA356171842 | WFS1 | c.467C>A (p.Thr156Lys) c.457C>A c.218C>A (p.Thr73Lys) c.266C>A (p.Thr89Lys) c.341C>A (p.Thr114Lys) c.64C>A n.652C>A c.476C>A (p.Thr159Lys) | |
| 4 | g.6291203C= | CA1435768566 | WFS1 | c.467C= (p.Thr156=) c.457C= c.218C= (p.Thr73=) c.266C= (p.Thr89=) c.341C= (p.Thr114=) c.64C= n.652C= c.476C= (p.Thr159=) | |
| 4 | g.6291203C>G | CA356171841 | WFS1 | c.467C>G (p.Thr156Arg) c.457C>G c.218C>G (p.Thr73Arg) c.266C>G (p.Thr89Arg) c.341C>G (p.Thr114Arg) c.64C>G n.652C>G c.476C>G (p.Thr159Arg) | |
| 4 | g.6291203C>T | CA2838910 | WFS1 | c.467C>T (p.Thr156Met) c.457C>T c.218C>T (p.Thr73Met) c.266C>T (p.Thr89Met) c.341C>T (p.Thr114Met) c.64C>T n.652C>T c.476C>T (p.Thr159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291204G>A | CA2838912 | WFS1 | c.468G>A (p.Thr156=) c.458G>A c.219G>A (p.Thr73=) c.267G>A (p.Thr89=) c.342G>A (p.Thr114=) c.65G>A n.653G>A c.477G>A (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291204G>C | CA438210931 | WFS1 | c.468G>C (p.Thr156=) c.458G>C c.219G>C (p.Thr73=) c.267G>C (p.Thr89=) c.342G>C (p.Thr114=) c.65G>C n.653G>C c.477G>C (p.Thr159=) | |
| 4 | g.6291204G= | CA1435768567 | WFS1 | c.468G= (p.Thr156=) c.458G= c.219G= (p.Thr73=) c.267G= (p.Thr89=) c.342G= (p.Thr114=) c.65G= n.653G= c.477G= (p.Thr159=) | |
| 4 | g.6291204G>T | CA2838911 | WFS1 | c.468G>T (p.Thr156=) c.458G>T c.219G>T (p.Thr73=) c.267G>T (p.Thr89=) c.342G>T (p.Thr114=) c.65G>T n.653G>T c.477G>T (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291205T>A | CA356171843 | WFS1 | c.469T>A (p.Ser157Thr) c.459T>A c.220T>A (p.Ser74Thr) c.268T>A (p.Ser90Thr) c.343T>A (p.Ser115Thr) c.66T>A n.654T>A c.478T>A (p.Ser160Thr) |